Lista de obras -

A genome-wide association study identifies susceptibility loci for Wilms tumor

scientific journal article

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.

artículo científico publicado en 2016

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

artículo científico publicado en 2017

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

artículo científico publicado en 2015

Clinical Annotation Reference Templates: a resource for consistent variant annotation

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

article by Katrina Tatton-Brown et al published 30 November 2018 in Oncotarget

Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

article

Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor.

artículo científico publicado en 2016

CoverView: a sequence quality evaluation tool for next generation sequencing data

artículo científico publicado en 2018

Erratum: Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

article

Germline RAD51C mutations confer susceptibility to ovarian cancer

Germline mutations in RAD51D confer susceptibility to ovarian cancer

artículo científico publicado en 2011

Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.

artículo científico publicado en 2014

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

artículo científico publicado en 2011

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series

article by Elise Ruark et al published 31 August 2018 in Wellcome Open Research

Identification of new Wilms tumour predisposition genes: an exome sequencing study

article

Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14

artículo científico publicado en 2013

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

artículo científico publicado en 2016

Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers

artículo científico publicado en 2019

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

artículo científico publicado en 2013

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

artículo científico publicado en 2011

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

artículo científico publicado en 2017

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

artículo científico

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

artículo científico publicado en 2015

Mutations in the transcriptional repressor REST predispose to Wilms tumor

artículo científico publicado en 2015

OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.

artículo científico publicado en 2016

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer

artículo científico publicado en 2012

Resolving the full spectrum of human genome variation using Linked-Reads

The ICR1000 UK exome series: a resource of gene variation in an outbred population

artículo científico publicado en 2015

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis

artículo científico publicado en 2016

The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing

article

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data

artículo científico publicado en 2017

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance

artículo científico publicado en 2018

Lista de obras de

A genome-wide association study identifies susceptibility loci for Wilms tumor

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

Clinical Annotation Reference Templates: a resource for consistent variant annotation

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor.

CoverView: a sequence quality evaluation tool for next generation sequencing data

Erratum: Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

Germline RAD51C mutations confer susceptibility to ovarian cancer

Germline mutations in RAD51D confer susceptibility to ovarian cancer

Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series

Identification of new Wilms tumour predisposition genes: an exome sequencing study

Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Mutations in the transcriptional repressor REST predispose to Wilms tumor

OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer

Resolving the full spectrum of human genome variation using Linked-Reads

The ICR1000 UK exome series: a resource of gene variation in an outbred population

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis

The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance